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Protein Page:
GYS2 (human)

Overview
GYS2 Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan. Defects in GYS2 are the cause of glycogen storage disease type 0 (GSD0); A metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia. Belongs to the glycosyltransferase 3 family. Note: This description may include information from UniProtKB.
Protein type: Carbohydrate Metabolism - starch and sucrose; Cytoskeletal; EC 2.4.1.11; Transferase
Chromosomal Location of Human Ortholog: 12p12.2
Cellular Component: cell cortex; cortical actin cytoskeleton; cytoplasm; cytoskeleton; cytosol; ectoplasm
Molecular Function: glycogen (starch) synthase activity; protein homodimerization activity
Biological Process: generation of precursor metabolites and energy; glycogen biosynthetic process; response to glucose stimulus
Disease: Glycogen Storage Disease 0, Liver
Reference #:  P54840 (UniProtKB)
Alt. Names/Synonyms: Glycogen [starch] synthase, liver; glycogen synthase 2 (liver); GYS2
Gene Symbols: GYS2
Molecular weight: 80,989 Da
Basal Isoelectric point: 6.35  Predict pI for various phosphorylation states
CST Pathways:  Actin Dynamics  |  AMPK Signaling  |  Insulin Receptor Signaling  |  PI3K/Akt Signaling
Select Structure to View Below

GYS2

Protein Structure Not Found.


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